Understanding CCM2 Gene and Cerebral Cavernous Malformations Type 2
Cerebral cavernous malformations (CCMs) are vascular abnormalities that occur in the brain and spinal cord. They are characterized by clusters of dilated, thin-walled blood vessels that can leak blood and cause seizures, headaches, and neurological deficits. Cerebral cavernous malformations type 2 (CCM2) is a genetic disorder that affects the CCM2 gene, causing the formation of these malformations.
What is the CCM2 Gene?
The CCM2 gene is located on chromosome 7 and provides instructions for making a protein called malcavernin. This protein is involved in the development and maintenance of blood vessels in the brain and other tissues. Mutations in the CCM2 gene can disrupt the normal functioning of malcavernin and lead to the formation of CCMs.
CCM2 Gene and Cerebral Cavernous Malformations Type 2
CCM2 is an autosomal dominant disorder, which means that a person only needs to inherit one mutated copy of the CCM2 gene from one parent to develop the condition. Symptoms of CCM2 usually appear in early adulthood and can range from mild to severe. They may include:
- Seizures
- Headaches
- Weakness or numbness in the arms or legs
- Difficulty speaking or understanding speech
- Visual disturbances
- Balance problems
Diagnosis of CCM2 typically involves a combination of imaging tests, such as magnetic resonance imaging (MRI), and genetic testing to identify mutations in the CCM2 gene.
NGS Genetic Test for CCM2 Gene
Next-generation sequencing (NGS) is a powerful genetic testing technique that can analyze multiple genes at once, including the CCM2 gene. NGS can identify mutations in the CCM2 gene with high accuracy and sensitivity, making it an effective tool for diagnosing CCM2.
Cost of NGS Genetic Test for CCM2 Gene
The cost of NGS Genetic Test for CCM2 gene in India typically ranges from INR 15,000 to INR 25,000, depending on the laboratory and the specific test ordered. DNA Labs India offers a CCM2 gene NGS test for INR 20,000.
Conclusion
Cerebral cavernous malformations type 2 is a genetic disorder caused by mutations in the CCM2 gene. NGS Genetic Testing can accurately diagnose the condition and help guide treatment decisions. If you or a loved one is experiencing symptoms of CCM2, consider talking to a genetic counselor or healthcare provider about the benefits and limitations of genetic testing.
For more information on NGS Genetic Testing for CCM2 gene, contact DNA Labs India.
| Test Name | CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test gene CCM2 |
| Disease | Vascular Diseases |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test gene CCM2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
